PABPN1L[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 115

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 57288	GRCh38/hg38 16q24.3(chr16:88818756-89413158)x1	ACSF3, ANKRD11 +77 more	Copy number loss	See cases	GPathogenic
Select item 2607552	NM_001080487.4(PABPN1L):c.817C>A (p.Pro273Thr)	PABPN1L (P273T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388594	NM_001080487.4(PABPN1L):c.803G>A (p.Arg268His)	PABPN1L (R268H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207862	NM_001080487.4(PABPN1L):c.800C>A (p.Ala267Asp)	PABPN1L (P238T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515651	NM_001080487.4(PABPN1L):c.737C>G (p.Ala246Gly)	PABPN1L (A246G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2285326	NM_001080487.4(PABPN1L):c.721C>T (p.Pro241Ser)	PABPN1L (P241S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227393	NM_001080487.4(PABPN1L):c.718C>T (p.His240Tyr)	PABPN1L (T204I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214281	NM_001080487.4(PABPN1L):c.703G>A (p.Gly235Arg)	PABPN1L (G235R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213784	NM_001080487.4(PABPN1L):c.700C>T (p.Arg234Cys)	PABPN1L (P198L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207861	NM_001080487.4(PABPN1L):c.673A>G (p.Asn225Asp)	PABPN1L (N225D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207860	NM_001080487.4(PABPN1L):c.668G>C (p.Arg223Thr)	PABPN1L (E194Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458307	NM_001080487.4(PABPN1L):c.662C>T (p.Pro221Leu)	PABPN1L (R192* +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2354279	NM_001080487.4(PABPN1L):c.661C>T (p.Pro221Ser)	PABPN1L (P221S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222452	NM_001080487.4(PABPN1L):c.644G>A (p.Arg215Gln)	PABPN1L (R215Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207859	NM_001080487.4(PABPN1L):c.643C>T (p.Arg215Trp)	PABPN1L (R215W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207858	NM_001080487.4(PABPN1L):c.643C>G (p.Arg215Gly)	PABPN1L (P179R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369785	NM_001080487.4(PABPN1L):c.610G>A (p.Ala204Thr)	PABPN1L (R168H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324674	NM_001080487.4(PABPN1L):c.601G>A (p.Val201Met)	PABPN1L (V201M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248711	NM_001080487.4(PABPN1L):c.593A>C (p.Lys198Thr)	PABPN1L (Q162H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207857	NM_001080487.4(PABPN1L):c.587C>T (p.Ala196Val)	PABPN1L (A196V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2570275	NM_001080487.4(PABPN1L):c.551C>G (p.Ser184Cys)	PABPN1L (S184C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400735	NM_001080487.4(PABPN1L):c.545A>T (p.Lys182Met)	PABPN1L (K182M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261188	NM_001080487.4(PABPN1L):c.524G>A (p.Arg175Gln)	PABPN1L (R175Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207856	NM_001080487.4(PABPN1L):c.481G>A (p.Glu161Lys)	PABPN1L (E161K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207855	NM_001080487.4(PABPN1L):c.478G>A (p.Ala160Thr)	PABPN1L (A160T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621926	NM_001080487.4(PABPN1L):c.440G>C (p.Arg147Thr)	PABPN1L (R147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349534	NM_001080487.4(PABPN1L):c.413C>T (p.Pro138Leu)	PABPN1L (P138L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532490	NM_001080487.4(PABPN1L):c.340G>A (p.Glu114Lys)	PABPN1L (E114K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207854	NM_001080487.4(PABPN1L):c.337G>A (p.Ala113Thr)	PABPN1L (A113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383933	NM_001080487.4(PABPN1L):c.328C>G (p.Gln110Glu)	PABPN1L (Q110E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289079	NM_001080487.4(PABPN1L):c.325G>A (p.Val109Met)	PABPN1L (V109M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246818	NM_001080487.4(PABPN1L):c.323G>C (p.Gly108Ala)	PABPN1L (G108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207853	NM_001080487.4(PABPN1L):c.291G>A (p.Met97Ile)	PABPN1L (M97I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540095	NM_001080487.4(PABPN1L):c.232G>A (p.Ala78Thr)	PABPN1L (A78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360238	NM_001080487.4(PABPN1L):c.232G>C (p.Ala78Pro)	PABPN1L (A78P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360011	NM_001080487.4(PABPN1L):c.182A>T (p.Gln61Leu)	PABPN1L (Q61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063444	GRCh37/hg19 16q24.2-24.3(chr16:88153961-89104917)x1	APRT, CBFA2T3 +14 more	Copy number loss	not specified	GUncertain significance
Select item 3063433	GRCh37/hg19 16q24.3(chr16:88889501-88974162)x3	CBFA2T3, GALNS +2 more	Copy number gain	not specified	GUncertain significance
Select item 3024606	GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1	ACSF3, ANKRD11 +22 more	Copy number loss	not provided	GPathogenic
Select item 2685587	GRCh37/hg19 16q24.2-24.3(chr16:88067200-89460290)x1	ACSF3, ANKRD11 +20 more	Copy number loss	not provided	GPathogenic
Select item 2425844	NC_000016.9:g.(?_88870240)_(89484776_?)dup	ACSF3, ANKRD11 +9 more	Duplication	KBG syndrome	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	FANCA, MC1R +45 more	Duplication	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1526543	GRCh37/hg19 16q24.3(chr16:88801603-89509853)	ACSF3, ANKRD11 +11 more	Copy number gain	not specified	GUncertain significance
Select item 1341552	NC_000016.9:g.88365786_89584412del1218627	ACSF3, ANKRD11 +21 more	Deletion	KBG syndrome	GPathogenic
Select item 1341097	GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3	ACSF3, ANKRD11 +42 more	Copy number gain	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BCO1, ACSF3 +102 more	Copy number gain	not provided	GPathogenic
Select item 1074796	NC_000016.9:g.(?_88709737)_(89220635_?)del	CYBA, ACSF3 +11 more	Deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 979487	GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3	SLC22A31, SNAI3 +41 more	Copy number gain	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 686714	GRCh37/hg19 16q24.2-24.3(chr16:88453448-89569215)x1	ACSF3, ANKRD11 +20 more	Copy number loss	not provided	GPathogenic
Select item 685185	GRCh37/hg19 16q24.3(chr16:88782844-89140571)x3	APRT, CBFA2T3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 585240	GRCh37/hg19 16q24.2-24.3(chr16:88317240-89079407)x3	CDT1, IL17C +15 more	Copy number gain	not provided	Gnot provided
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 560033	Single allele	IL17C, ACSF3 +29 more	Deletion	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442917	GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4	ACSF3, ANKRD11 +57 more	Copy number gain	See cases	GLikely pathogenic
Select item 442884	GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3	ACSF3, ANKRD11 +59 more	Copy number gain	See cases	GPathogenic
Select item 442336	GRCh37/hg19 16q24.2-24.3(chr16:88116155-89524926)x1	ACSF3, ANKRD11 +20 more	Copy number loss	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 442166	GRCh37/hg19 16q24.2-24.3(chr16:88104077-88958038)x3	APRT, BANP +15 more	Copy number gain	See cases	GLikely benign
Select item 441835	GRCh37/hg19 16q24.2-24.3(chr16:88445490-89319419)x3	ACSF3, APRT +18 more	Copy number gain	See cases	GUncertain significance
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 441081	GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1	ACSF3, ANKRD11 +30 more	Copy number loss	not provided	Gnot provided
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 267485	Single allele	ACSF3, ZNF778 +17 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic

<< First< Prev

Page of 2